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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 1
2002 3
2003 1
2004 1
2005 1
2006 3
2008 1
2009 2
2010 2
2011 4
2012 2
2013 7
2014 3
2015 10
2016 6
2017 5
2018 10
2019 10
2020 9
2021 4
2022 6
2023 3
2024 0

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90 results

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Page 1
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. Kingsmore SF, et al. Am J Hum Genet. 2022 Sep 1;109(9):1605-1619. doi: 10.1016/j.ajhg.2022.08.003. Epub 2022 Aug 24. Am J Hum Genet. 2022. PMID: 36007526 Free PMC article. Review.
Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, Langley RJ, Zhang L, Lee CC, Schilkey FD, Sheth V, Woodward JE, Peckham HE, Schroth GP, Kim RW, Kingsmore SF. Bell CJ, et al. Sci Transl Med. 2011 Jan 12;3(65):65ra4. doi: 10.1126/scitranslmed.3001756. Sci Transl Med. 2011. PMID: 21228398 Free PMC article.
The False-negative Phenotype.
Lantos JD. Lantos JD. Pediatrics. 2019 Jan;143(Suppl 1):S33-S36. doi: 10.1542/peds.2018-1099G. Pediatrics. 2019. PMID: 30600269
The Role of Genome Sequencing in Neonatal Intensive Care Units.
Kingsmore SF, Cole FS. Kingsmore SF, et al. Annu Rev Genomics Hum Genet. 2022 Aug 31;23:427-448. doi: 10.1146/annurev-genom-120921-103442. Epub 2022 Jun 8. Annu Rev Genomics Hum Genet. 2022. PMID: 35676073 Free PMC article. Review.
Rapid whole genome sequencing and precision neonatology.
Petrikin JE, Willig LK, Smith LD, Kingsmore SF. Petrikin JE, et al. Semin Perinatol. 2015 Dec;39(8):623-31. doi: 10.1053/j.semperi.2015.09.009. Epub 2015 Oct 29. Semin Perinatol. 2015. PMID: 26521050 Free PMC article. Review.
90 results